POTEB

Summary

POTEB (POTE ankyrin domain family member B, HGNC:33734) is a protein-coding gene on chromosome 15q11.2, encoding POTE ankyrin domain family member B (A0A0A6YYL3).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001277304

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33734
Approved symbol	POTEB
Name	POTE ankyrin domain family member B
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Aliases	POTE15, POTE-15, CT104.5
Ensembl gene	ENSG00000233917
Ensembl biotype	protein_coding
OMIM	608912
Entrez	100996331

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 protein_coding

ENST00000435397, ENST00000439682, ENST00000553662, ENST00000570157

RefSeq mRNA: 1 — MANE Select: NM_001277304 NM_001277304

CCDS: CCDS59250

Canonical transcript exons

ENST00000439682 — 11 exons

Exon	Start	End
ENSE00001684849	21859452	21859522
ENSE00001722504	21876837	21877735
ENSE00003463781	21872007	21872180
ENSE00003520592	21869072	21869178
ENSE00003547178	21867597	21867734
ENSE00003548196	21865016	21865086
ENSE00003599958	21848199	21848322
ENSE00003602159	21872340	21872454
ENSE00003614033	21856792	21856958
ENSE00003617970	21858004	21858048
ENSE00003652325	21846329	21846560

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 81.66.

Top tissues by expression

107 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.66	gold quality
testis	UBERON:0000473	44.73	gold quality
right testis	UBERON:0004534	43.72	gold quality
left testis	UBERON:0004533	41.94	gold quality
sural nerve	UBERON:0015488	40.05	gold quality
mucosa of transverse colon	UBERON:0004991	39.85	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
placenta	UBERON:0001987	33.22	gold quality
mucosa of stomach	UBERON:0001199	32.97	gold quality
monocyte	CL:0000576	32.50	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	32.06	gold quality
right uterine tube	UBERON:0001302	31.82	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.36	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
right coronary artery	UBERON:0001625	30.65	silver quality
prostate gland	UBERON:0002367	30.09	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.80	gold quality
liver	UBERON:0002107	29.00	gold quality
lymph node	UBERON:0000029	28.72	gold quality
duodenum	UBERON:0002114	28.14	gold quality
calcaneal tendon	UBERON:0003701	27.14	gold quality
islet of Langerhans	UBERON:0000006	26.92	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.18

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Identifies POTEB as being one of 30 genes with the most variable copy numbers in three human genomes. (PMID:19718026)

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEG (ENSG00000187537), POTEE (ENSG00000188219), POTEA (ENSG00000188877), POTEF (ENSG00000196604), POTEI (ENSG00000196834), POTEH (ENSG00000198062), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member B — A0A0A6YYL3 (reviewed: A0A0A6YYL3)

Alternative names: ANKRD26-like family B member 1, Prostate, ovary, testis-expressed protein on chromosome 15

All UniProt accessions (2): A0A0A6YYL3, Q495V5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

RefSeq proteins (1): NP_001264233* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF12796, PF14915

UniProt features (15 total): repeat 5, sequence variant 4, compositionally biased region 3, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0A6YYL3-F1	71.63	0.49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): chr15q11, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, CAMPS_COLON_CANCER_COPY_NUMBER_DN, WEBER_METHYLATED_HCP_IN_SPERM_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

6 interactions, top by confidence:

A	B	Type	Score
HEXB	POTEB	psi-mi:“MI:0914”(association)	0.350
POTEB3	POTEB	psi-mi:“MI:0914”(association)	0.350
REPIN1	POTEB	psi-mi:“MI:0914”(association)	0.350
TRIM23	POTEB	psi-mi:“MI:0914”(association)	0.350
CEP83	POTEB	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q8N2N9, Q8NF67, Q96IX9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3650 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:21872180:C:G	A176P	0.976
15:21872111:C:G	D199H	0.971
15:21872368:T:A	D166V	0.967
15:21872437:G:T	A143D	0.963
15:21872454:C:A	R137S	0.963
15:21872454:C:G	R137S	0.963
15:21867718:C:G	A275P	0.962
15:21876918:G:T	A110D	0.962
15:21872369:C:G	D166H	0.958
15:21872438:C:G	A143P	0.957
15:21876850:C:G	D133H	0.957
15:21872143:A:G	L188S	0.956
15:21872367:G:C	D166E	0.956
15:21872367:G:T	D166E	0.956
15:21869119:A:C	F253L	0.954
15:21869119:A:T	F253L	0.954
15:21869121:A:G	F253L	0.954
15:21872081:C:G	A209P	0.954
15:21867717:G:T	A275D	0.949
15:21872449:G:T	A139D	0.949
15:21872010:G:C	N232K	0.947
15:21872010:G:T	N232K	0.947
15:21869117:A:G	L254S	0.946
15:21872109:A:C	D199E	0.946
15:21872109:A:T	D199E	0.946
15:21872340:C:A	K175N	0.945
15:21872340:C:G	K175N	0.945
15:21872368:T:G	D166A	0.944
15:21872443:T:C	H141R	0.944
15:21869154:C:G	G242R	0.943

dbSNP variants (sampled 300 via entrez): RS1002625923 (15:21851470 A>G), RS1002742100 (15:21854416 G>A), RS1004563652 (15:21851331 T>C,G), RS1005782793 (15:21859019 G>A,C), RS1007808033 (15:21854510 A>G,T), RS1008429552 (15:21847353 C>T), RS1009202662 (15:21854494 G>A), RS1011422194 (15:21854652 C>G,T), RS1011786991 (15:21855954 G>A), RS1012390419 (15:21871353 A>T), RS1015229422 (15:21851345 T>C), RS1016288186 (15:21859029 A>G), RS1017815741 (15:21854566 G>A), RS1019620275 (15:21855000 T>C), RS1022105584 (15:21854699 A>G,T)

Disease associations

OMIM: gene MIM:608912 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_216	Metabolite levels	8.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
pirinixic acid	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
2-palmitoylglycerol	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Methylcholanthrene	affects binding, increases reaction	1
Testosterone	affects cotreatment, increases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

75 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists